Are you or your child living with and concerned about nodules under the skin?

Have you ever questioned your diagnosis?

Symptoms such as small lumps under the skin, a weakened or hoarse voice, and joint inflammation could point to rare conditions such as Farber disease (Zielonka, M et al. Genetics in Med. 2017; a cross-sectional quantitative analysis of the natural history of Farber disease).

Our one-minute survey can help determine whether you exhibit these signs.

About Farber Disease

Farber disease is a rare disease that is commonly misdiagnosed as juvenile idiopathic arthritis (JIA) and other similar conditions.

Here at Clara Health, we're partnering with Enzyvant to help spread the word about Farber disease and accelerate the pathway to new treatments for patients who need it most.

Enzyvant is dedicated to developing therapies for rare conditions like Farber disease. With a world-class roster of researchers and patient advocates, Enzyvant is leading the way in breakthrough research for people living with these diseases.

Know your diagnosis

Farber disease is often misdiagnosed. Together, Clara Health and Enzyvant are spreading awareness about the common symptoms of this rare condition.

If you or your child show these signs of Farber disease and care concerned about a misdiagnosis, our team can help. Simply reach out to lilly.stairs@clarahealth.com.

Joint inflammation

A weakened voice

Small lumps under the skin and in other tissues

Is the Farber Disease Natural History Study right for you?

Who is this study for?

Currently, the Enzyvant research team is conducting a natural history study to better understand the presentation, likely course, and impact of this frequently misdiagnosed disease.

All patients diagnosed with Farber disease are eligible to participate in advancing research on this rare condition. Additionally, if you have had a loved one pass away who was diagnosed with Farber disease, their records are also eligible for this study and could help lead to a deeper understanding of the condition.

A diagnosis of Farber disease is based on experiencing the typical symptoms and having these specific biochemical and genetic criteria (genetic testing will be provided for free to any patients who do not have the required tests).

Biochemical
White blood or skin cells (or other biological sources like plasma) with an acid ceramidase activity value that is less than 30% of what the normal value is. For deceased patients, finding the molecule ceramide in the cells from their histopathologic section tissue is enough to confirm the diagnosis.

Genetic
Changes in the gene for acid ceramidase (named ASAH1) or cDNA that show the acid ceramidase protein might not be functioning as well as it should be.

What should I expect?

This study will differ from patient to patient. Simply submitting your medical information may be the extent of your participation, or you may take an assessment every three to six months. For details specific to you, simply contact lilly.stairs@clarahealth.com.